NM_003060.4(SLC22A5):c.1563T>C (p.Ile521=) AND Renal carnitine transport defect
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002146841.5
Allele description [Variation Report for NM_003060.4(SLC22A5):c.1563T>C (p.Ile521=)]
NM_003060.4(SLC22A5):c.1563T>C (p.Ile521=)
Condition(s)
- Name:
- Renal carnitine transport defect (CDSP)
- Synonyms:
- CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Primary carnitine deficiency; Carnitine uptake defect; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008919; MedGen: C0342788; Orphanet: 158; OMIM: 212140
Assertion and evidence details
Last Updated: Feb 20, 2024